Protein level identifier (n.a.):
p.Ser359Ser
cDNA level identifier (n.a.):
c.1077G>A
Gene level identifier:
g.59270G>A
Reference, alternative allele:
C, T
Genomic location hg(0)
22:38528838 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
22
Positive functional evidence:
not available
Number of all included cases:
4 compound heterozygous (4 in total).